research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
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research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research PA32 Severe lichen planus with co-localization of vitiligo: a rare and unusual case
A 13-year-old boy had both lichen planus and vitiligo, suggesting a possible link between the two conditions.
research El sistema español de autonomías territoriales: apuntes para un diagnóstico
Generalized trichoepitheliomas with alopecia may indicate myasthenia gravis.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Clinical, morphological and immunohistochemical characterization of cutaneous lymphocytosis in 23 cats
Cutaneous lymphocytosis in cats is a slowly progressing, relatively benign disease affecting older cats, often causing skin lesions and systemic signs.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Multiple perifollicular fibromas: report of a case and analysis of the literature
Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
research A Case Report of Discoid Lupus Erythematosus Mimicking Skin Infection
Discoid lupus erythematosus can be mistaken for a skin infection, complicating diagnosis and treatment.
research Overview of common, rare and atypical manifestations of cutaneous lupus erythematosus and histopathological correlates
The document concludes that recognizing and treating cutaneous lupus erythematosus early is crucial for managing the skin and potential systemic symptoms.
research Thymic Stromal Lymphopoietin in Cutaneous Immune-Mediated Diseases
A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Cutaneous Lupus Erythematosus Presenting as Frontal Fibrosing Alopecia: Report of 2 Patients
Two patients with skin lupus were mistakenly thought to have a different scalp condition but improved with lupus treatment.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
research Cutaneous Lesions in Systemic Lupus Erythematosus
Skin problems are common in lupus, important for diagnosis, and can be triggered by sunlight.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Heterogeneous disease: A child case of lichen planus pemphigoides triggered by varicella
A child's rare skin disease was triggered by chickenpox.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
research M2 Macrophage and Extracellular Matrix Genes Are Enriched in High‐Activity Lichen Planopilaris
Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
research Monilethrix: an ultrastructural study
Monilethrix hair issues are due to problems in the hair's internodes.
research Clinical Case Notes. Castleman's disease of the lacrimal gland
The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Borderline Tuberculoid leprosy of the scalp mimicking alopecia areata-vitiligo overlap syndrome: A case report
A woman's hair loss and skin discoloration were found to be caused by a rare case of leprosy on the scalp, not alopecia-vitiligo overlap.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.